KEGG   VARIANT: 3425v1
Entry
3425v1                      Variant                                
Name
IDUA deficiency
Gene
IDUA  alpha-L-iduronidase [KO:K01217]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 252800
Network
nt06012  Glycosaminoglycan degradation
Disease
H00128  Mucopolysaccharidosis type I
Drug target
Laronidase: D04670<JP/US>
Reference
  Authors
Atceken N, Ozgul RK, Yucel Yilmaz D, Tokatli A, Coskun T, Sivri HS, Dursun A, Karaca M
  Title
Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.
  Journal
Turk J Med Sci 46:404-8 (2016)
DOI:10.3906/sag-1411-160
Reference
  Authors
Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A
  Title
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.
  Journal
Clin Genet 90:496-508 (2016)
DOI:10.1111/cge.12795
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